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Volumn 19, Issue 1, 2004, Pages 249-251

Double nucleotide mutation of the MYH9 gene in a young patient with end-stage renal disease

Author keywords

Alport's syndrome; Double nucleotidic mutation; End stage renal disease

Indexed keywords

CALCIUM ANTAGONIST; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; MYOSIN HEAVY CHAIN; MOLECULAR MOTOR; MYH9 PROTEIN, HUMAN;

EID: 0346656633     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/gfg475     Document Type: Article
Times cited : (5)

References (6)
  • 1
    • 0002204298 scopus 로고
    • Alport syndrome
    • Schrier RW and Gottschalk CW, eds. 4th edn. Little Brown, Boston, MA
    • Atkin CL, Gregory MC, Border WA. Alport syndrome. In: Schrier RW and Gottschalk CW, eds. Diseases of the Kidney, 4th edn. Little Brown, Boston, MA, 1988; Vol. 1: 617-641
    • (1988) Diseases of the Kidney , vol.1 , pp. 617-641
    • Atkin, C.L.1    Gregory, M.C.2    Border, W.A.3
  • 2
    • 0034755959 scopus 로고    scopus 로고
    • Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenia: May-Hegglin anomaly and Fechtner, Sebastian, Epstein and Alport-like syndromes
    • Heath K, Campos Barros A, Toren A et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenia: May-Hegglin anomaly and Fechtner, Sebastian, Epstein and Alport-like syndromes. Am J Hum Genet 2001; 69: 1033
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 1033
    • Heath, K.1    Campos Barros, A.2    Toren, A.3
  • 3
    • 0033994422 scopus 로고    scopus 로고
    • Inherited giant platelet disorders. Classification and literature review
    • Mhawech P, Saleem A. Inherited giant platelet disorders. Classification and literature review. Am J Clin Pathol 2000; 113: 176
    • (2000) Am. J. Clin. Pathol. , vol.113 , pp. 176
    • Mhawech, P.1    Saleem, A.2
  • 4
    • 0037139605 scopus 로고    scopus 로고
    • Cloning of the murine nonmuscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner and Epstein Syndromes
    • D'Apolito M, Guarnieri V, Boncristiano M, Zelante L, Savoia A. Cloning of the murine nonmuscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner and Epstein Syndromes. Gene 2002; 286: 215
    • (2002) Gene , vol.286 , pp. 215
    • D'Apolito, M.1    Guarnieri, V.2    Boncristiano, M.3    Zelante, L.4    Savoia, A.5
  • 5
    • 0037225967 scopus 로고    scopus 로고
    • Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)
    • Ghiggeri GM, Caridi G, Magrini U et al. Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Am J Kidney Dis 2003; 41: 95
    • (2003) Am. J. Kidney Dis. , vol.41 , pp. 95
    • Ghiggeri, G.M.1    Caridi, G.2    Magrini, U.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.